Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden.

Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision-making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale-24 (GCOS-24), an internationally validated, patient-reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling. This study aimed to translate and cross-culturally adapt the GCOS-24 to measure patient-reported outcome from genetic counseling in Sweden. The adaptation process was meticulously conducted, adhering to international guidelines, with cross-cultural adaptation, translation, and back translation, to ensure semantic, conceptual, and idiomatic equivalence with the original English version. Face validity and understandability was assured using qualitative cognitive interviews conducted with patient representatives, and by a committee of experts in the field. The psychometric properties of the Swedish version of GCOS-24 (GCOS-24swe) were evaluated using a robust sample of 374 patients. These individuals received genetic counseling by telephone or video, necessitated by the constraints of the COVID-19 pandemic. Participants responded to GCOS-24swe both before and after genetic counseling. The GCOS-24swe demonstrated face validity, good internal consistency (Cronbach's alpha = 0.86), significant responsiveness (Cohen's d = 0.65, p < 0.001), and good construct validity. The study's findings underscore the GCOS-24swe's potential as an effective instrument in both clinical practice and research within Sweden. It offers a valuable means for assessing patient empowerment, a key goal of genetic counseling. Additional psychometric assessment of test-retest reliability and interpretability would further enhance the utility of GCOS-24swe.

Genetic Counseling of Fetal Microcephaly.

Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.

Genetic Counseling for an Infertile Couple With Premature Chromatid Separation (PCS) Syndrome: A Case Report.

We report the first case of successful genetic counseling for an infertile couple with premature chromatid separation (PCS) syndrome. After our careful genetic counseling, the couple decided to continue infertility treatment. As a result, they gave birth to a baby (girl: 2,930 g) by caesarean section in May 2018. To our knowledge, there have not been any published reports regarding genetic counseling for an infertile couple with PCS after PubMed, EMBASE, and Web of Science searches until March 2024.

Investigating the impact of couple counseling based on the CHARMS model on sexual quality of life and marital satisfaction of wives of men suffering from myocardial infarction: a study protocol.

INTRODUCTION: Cardiovascular diseases are a common chronic illness in adults, with implications for health and psychological well-being. These implications not only affect the patients themselves but also impact family members, especially the spouses of patients. One significant issue and consequence of this disease is its impact on marital relationships and sexual satisfaction, which can also influence other dimensions of quality of life. The aim of the current study is to determine the effect of couple counseling based on the CHARMS model on sexual quality of life and marital satisfaction of wives of men suffering from myocardial infarction. METHOD: This study is a clinical randomized controlled trial. Sampling will be done on a convenience basis. Participants will be randomly allocated into two groups: control (50 couples) and intervention (50 couples). Couples in 6 groups of 8 members each will attend counseling sessions based con the CHARMS model, with sessions held weekly and lasting for 60 min. Data collection tools will include Demographic information questionnaire, Women's Sexual Quality of Life Questionnaire, Enrich Marital Satisfaction Questionnaire, Sexual Compatibility Questionnaire and Perceived Quality of Relationship Dimensions Questionnaire, which will be completed by women in both groups before and after the intervention. Data will be analyzed using appropriate statistical tests and SPSS software. DISCUSSION: This trial will evaluate whether a counseling intervention based on the CHARMS model can enhance sexual quality of life and marital satisfaction of wives of men with myocardial infarction in Urmia city. TRIAL REGISTRATION: IRCT code: IRCT20240218061046N1.

Cardiovascular diseases are a common chronic illness in adults, with implications for health and psychological well-being. One significant issue and consequence of this disease is its impact on marital relationships and sexual satisfaction, which can also influence other dimensions of quality of life.This trial will evaluate whether a counseling intervention based on the CHARMS model can enhance sexual quality of life and marital satisfaction of wives of men with myocardial infarction in Urmia city. A CHARMS-based intervention with 4 principles addresses the sexual and marital relationship empowerment of couples following a severe heart attack. These principles include: (1) Counseling and providing information on the impact of cardiovascular diseases on sexual desires. (2) Counseling and providing information on a healthy sexual life and communication skills strategies with the sexual partner. (3) Counseling on uncovering false beliefs and misconceptions regarding relationship risks and fears. (4) Providing tips and solutions for resuming sexual relations after a severe heart event, addressing sexual and interpersonal challenges. This intervention sets patients' expectations of sexual relationships based on a final focus on "sexual intimacy" as the ultimate goal of therapy.This study is a clinical randomized controlled trial. Participants will be randomly allocated into two groups: control (50 couples) and intervention (50 couples). Couples in 6 groups of 8 members each will attend counseling sessions based con the CHARMS model, with sessions held weekly and lasting for 60 min.

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays. Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools. Furthermore, we performed in vitro experimentation targeting SNX14 gene expression to confirm whether the variants could alter the expression of SNX14. Results: The proband had prenatal ultrasound findings that included flattened frontal bones, increased interocular distance, widened bilateral cerebral sulci, and shortened long bones, which resulted in subsequent postnatal developmental delays. The older sister also displayed growth developmental delays and poor muscle tone. WES identified compound heterozygous variants of c.712A>T (p.Arg238Ter) and .2744A>T (p.Gln915Leu) in the SNX14 gene in these two children. Both are novel missense variant that originates from the father and mother, respectively. Sanger sequencing confirmed this result. Following the guideline of the American College of Medical Genetics and Genomics (ACMG), the SNX14 c.712A>T (p.Arg238Ter) variant was predicted to be pathogenic (P), while the SNX14 c.2744A>T (p.Gln915Leu) variant was predicted to be a variant of uncertain significance (VUS). The structural analysis revealed that the c.2744A>T (p.Gln915Leu) variant may impact the stability of the SNX14 protein. In vitro experiments demonstrated that both variants reduced SNX14 expression. Conclusion: The SNX14 gene c.712A>T (p.Arg238Ter) and c.2744A>T (p.Gln915Leu) were identified as the genetic causes of growth and developmental delay in two affected children. This conclusion was based on the clinical presentations of the children, structural analysis of the mutant protein, and in vitro experimental validation. This discovery expands the range of SNX14 gene variants and provides a foundation for genetic counseling and guidance for future pregnancies in the affected children's families.

HIV seroconversion and associated factors among seronegative pregnant women attending ANC in Ethiopia: an institution-based cross-sectional study.

Background: In countries with limited resources, including Ethiopia, HIV is diagnosed using a rapid serological test, which does not detect the infection during the window period. Pregnant women who test negative for HIV on the first test may seroconvert throughout pregnancy. Women who are seroconverted during pregnancy may not have received interventions, as they are considered HIV-negative unless they are retested for HIV at the end of their pregnancy. Due to limited data on HIV seroconversion, this study aimed to measure the extent of HIV seroconversion and to identify associated factors among seronegative pregnant women attending ANC in Ethiopia. Methods: Institution-based cross-sectional study was conducted among HIV-negative pregnant women attending the ANC in Ethiopia between June and July 2020. Socio-demographic, clinical, and behavioral data were collected through face-to-face questionnaires and participants' records review. HIV retesting was performed to determine the current HIV status of pregnant women. The data collected were entered into Epi data version 4.4.1 and were exported and analyzed by SPSS version 25. A p-value < 0.25 in the bivariate analysis was entered into multivariable logistic regression analysis and a p-value of < 0.05 was considered statistically significant. Result: Of the 494 pregnant women who tested negative for HIV on their first ANC test, six (1.2%) tested positive on repeat testing. Upon multivariable logistic regression, pregnant women who have had a reported history of sexually transmitted infections [AOR = 7.98; 95% CI (1.21, 52.82)], participants' partners reported travel history for work frequently [AOR = 6.00; 95% CI (1.09, 32.99)], and sexually abused pregnant women [AOR = 7.82; 95% CI (1.194, 51.24)] were significantly associated with HIV seroconversion. Conclusion: The seroconversion rate in this study indicates that pregnant women who are HIV-negative in early pregnancy are at an ongoing risk of seroconversion throughout their pregnancy. Thus, this study highlights the benefit of a repeat HIV testing strategy in late pregnancy, particularly when the risk of seroconversion or new infection cannot be convincingly excluded. Therefore, repeated testing of HIV-negative pregnant women in late pregnancy provides an opportunity to detect seroconverted pregnant women to enable the timely use of ART to prevent mother-to-child transmission of HIV infection.

Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11 (STK11/LKB1) gene mutations. Preimplantation genetic testing can protect a patient's offspring from mutated genes; however, some variations in this gene have been interpreted as variants of uncertain significance (VUS), which complicate reproductive decision-making in genetic counseling. AIM: To identify the pathogenicity of two missense variants and provide clinical guidance. METHODS: Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of Citic-Xiangya. Software was employed to predict the protein structure, conservation, and pathogenicity of the two missense variation sites in patients with PJS. Additionally, plasmids were constructed and transfected into HeLa cells to observe cell growth. The differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and immunohistochemistry. Statistical analysis was performed using one-way analysis of variance. P < 0.05 was considered statistically significant. RESULTS: We identified two missense STK11 gene VUS [c.889A>G (p.Arg297Gly) and c.733C>T (p.Leu245Phe)] in 9 unrelated PJS families who were seeking reproductive assistance. The two missense VUS were located in the catalytic domain of serine/threonine kinase, which is a key structure of the liver kinase B1 (LKB1) protein. In vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase (AMPK) at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type cells. In addition, the two missense STK11 variants promoted the proliferation of HeLa cells. Subsequent immunohistochemical analysis showed that phosphorylated-AMPK (Thr172) expression was significantly lower in gastric, colonic, and uterine polyps from PJS patients with missense variations than in non-PJS patients. Our findings indicate that these two missense STK11 variants are likely pathogenic and inactivate the STK11 gene, causing it to lose its function of regulating downstream phosphorylated-AMPK (Thr172), which may lead to the development of PJS. The identification of the pathogenic mutations in these two clinically characterized PJS patients has been helpful in guiding them toward the most appropriate mode of pregnancy assistance. CONCLUSION: These two missense variants can be interpreted as likely pathogenic variants that mediated the onset of PJS in the two patients. These findings not only offer insights for clinical decision-making, but also serve as a foundation for further research and reanalysis of missense VUS in rare diseases.

Evaluation of multidisciplinary high-risk pregnancy clinic for myelomeningocele.

INTRODUCTION: A cross-sectional study retrospectively evaluating the perceived usefulness of attending a multi-disciplinary, roundtable, educational prenatal clinic for mothers expecting children with myelomeningocele is presented. METHODS: Mothers who currently have children with SB completed a survey which evaluated their overall preparedness, spina bifida education, delivery plans, surgical expectations, and expectations in terms of quality of life and development. Open comments were also collected. Statistical analysis was performed to identify differences between those who attended prenatal counseling and those who did not. RESULTS: Approximately half of these mothers received some form of prenatal SB counseling. Mothers who attended prenatal counseling reported that they felt more informed and prepared throughout their pregnancy, during the delivery of their child and during their initial hospital stay than mothers who did not. They reported that the roundtable discussions were beneficial, and the education they received was useful in helping them form accurate expectations and feel more at ease. CONCLUSION: This suggests that prenatal counseling and the High-Risk Pregnancy Clinic (HRPC) provides perceived utility to families and mothers and that the HRPC is an effective method of providing prenatal counseling to mothers whose unborn children have been diagnosed with myelomeningocele.

Community Pharmacists' Identifying and Counseling of Breastfeeding Women: A Study from Jordan.

Background: This study explored the approaches of Jordanian community pharmacists to identifying and counseling breastfeeding mothers regarding medication usage. Methods: This cross-sectional study used self-administered questionnaires. A convenience sample (n=381) of Jordanian community pharmacists was recruited through social media. The responses were statistically analyzed using IBM SPSS ver. 25.0 (IBM Corp., USA). Results: The majority of recruited pharmacists were female (n=329, 86.4%). Asking every woman was Jordanian pharmacists' preferred approach to identifying breastfeeding women (n=211, 55.4%). The study showed that around one-third of the pharmacists (n=128, 33.6%) reported that they currently experienced queries regarding medication use during breastfeeding on a daily basis. Additionally, the majority (n=325, 85.3%) of pharmacists reported feeling confident, and 67.2% of them (n=256) reported feeling comfortable while giving advice to breastfeeding women. The surveyed pharmacists relied on different resources during their course of practice to answer queries related to medicine usage by breastfeeding mothers. Conclusion: Community pharmacists have continuous interactions with breastfeeding women. Pharmacists require reliable and updated data access to answer queries related to medication use while breastfeeding.

Decision-making for congenital anomalies diagnosed during pregnancy: a narrative review.

PURPOSE: The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions. METHODS: This was a literature review of source material and information about fetal anomalies diagnosed in the second trimester of pregnancy, decision-making, decision tools or aids, and sources of information for anomalies. The search string used explored related peer-reviewed publications and systematic reviews between 2007 and 2024. We also reviewed references from publications meeting inclusion criteria. The search was conducted between June 2022 and February 2024. Exclusion criteria included conference abstracts, non-peer reviewed literature, and articles not available in English language. A total of 77 publications were identified by searching multiple databases using a predefined search string. The search encompassed full text articles from 2007 to 2024 and 11 full-text publications were ultimately included in the review. A list of 45 co-occurring keywords was generated from the included texts, with each keyword having a minimum of two co-occurrences. RESULTS: Key themes identified included (1) the role of the clinician and need for development of professional knowledge and empathy surrounding discussion of fetal anomalies with patients; (2) information gathering, with individuals reporting use of multiple strategies to obtain information; while the majority found information satisfying, they preferred more details on diagnosis, long-term outcomes of the fetus/child and management of the pregnancy or termination process; and (3) decision-making, the path and process of how individuals made decisions about the pregnancy including quality of life, future fertility, and seeking other people's experiences. CONCLUSION: Many factors contribute to an individual's decision-making after a diagnosis of a fetal anomalies diagnosed in the second trimester of pregnancy, ranging from personal beliefs and goals to shared experiences of others and access to care. Understanding how sources of information may be deemed both as facilitators and barriers to different individuals during the decision-making process is important for healthcare providers in order to understand how to most effectively support patients. There is a dearth of information on training healthcare professionals to provide support to patients facing these decisions.

Veterans Administration Readjustment Counseling Service Counselors' Training Needs: Results of a National Needs Assessment.

The Department of Veteran Affairs established Readjustment Counseling Service (RCS) to meet the mental health needs of active-duty service members, veterans, and their families. A diverse therapeutic skill set is needed to serve this complex population. To assess training needs, a national mixed-methods needs assessment consisting of a survey for RCS counselors and focus groups among counselors, RCS educational trainers, and national leadership was conducted. Survey results (n = 681) showed that RCS counselors were most interested in trainings on moral injury, acceptance and commitment therapy, and military sexual trauma (MST). Desired trainings aligned with populations served. Themes from focus groups revealed the need for foundational trainings so that all RCS counselors are adept in treating MST, moral injury, and posttraumatic disorder and proficient in caring for couples. Additionally, counselors desired advanced trainings tailored to individual counselors' needs. RCS counselors identified multiple trainings to help them treat those they serve.

The Impact of Health Coaching on Weight and Physical Activity in Obese Adults: A Randomized Control Trial.

Health Coaching (HC) is an evidence-based, patient-centered approach to assisting individuals in achieving their health-related goals. Studies have generally shown positive effects of HC on weight loss in obese adults. However, limitations do exist, that if addressed would further clarify HC's viability as a clinical, obesity treatment approach. To examine the effects of HC on weight loss, moderate-to-vigorous physical activity (MVPA), and psychosocial constructs in obese adults. A randomized control trial with 44 [Mean body mass index (BMI) 36.5] middle-aged, White adults. Participants were randomly assigned to HC (n = 22) or control (n = 22) groups. A certified health coach provided bi-weekly, in-person and telehealth HC for 12 weeks. Percent excess weight loss was 15.7% in HC vs. 2.5% in controls (p< .001). The change in MVPA was significantly greater in HC (+50.3 min/wk) vs controls (+7.1 min/wk). Psychosocial constructs also changed more favorably in HC than controls. Health coaching is an effective approach for weight loss in obese adults. The results of this study support the consideration of HC as a treatment option for obese adults looking to lose weight.

Exploring timing and delivery of lifestyle advice following an acute cardiac event hospitalization: The cardiac patient's perspective.

OBJECTIVE: To explore the perspective of cardiac patients regarding the timing and manner of delivering lifestyle advice following an acute cardiac event hospitalization. METHODS: Dutch cardiac patients who experienced a cardiac event hospitalization participated in a semi-structured interview (n = 14) or a cross-sectional survey study (n = 119). RESULTS: Our findings indicate that cardiac patients are receptive to lifestyle advice throughout the care trajectory. Advice delivered by a cardiologist had the highest self-reported impact. Furthermore, receiving advice at multiple phases during the care trajectory was associated with a greater intention to change lifestyle (B = 0.37, CI = 0.17 - 0.57). Patients favored clear-cut, feasible, and friendly but confronting advice. Moreover, they stressed the importance of advice being aligned with their identity and beliefs about the causes of their disease. CONCLUSION: The period following an acute cardiac event provides a unique opportunity to offer tailored and patient-centered lifestyle advice. This "teachable window" for lifestyle change, when used wisely, may improve health outcomes for cardiac patients. PRACTICE IMPLICATIONS: Healthcare professionals should initiate lifestyle advice already during hospitalization and continue during follow-up appointments and cardiac rehabilitation. Advice should be feasible and empathy-based, as well as tailored to the patient's needs, values, and perceptions of the causes of their cardiovascular disease.

Supporting Adolescents Bereaved by Suicide or Other Traumatic Death: The Views of Counselors.

Adolescents bereaved by suicide and other traumatic death may experience strong grief reactions and increased risks of mental health problems and suicidal behaviour. As timely access to professional help can be critical, it is essential to understand how counselors perceive suicide bereavement in adolescents and how they work with this population. This study aimed to examine the perspectives of counselors (N = 34). Eleven participated in an individual semi-structured interview and 23 others in group interviews. Thematic analysis yielded three themes: (1) Building a relationship with the bereaved adolescent, (2) Offering support tailored to the needs of the grieving adolescent, and (3) Offering strengths-based and sustainable support. Counselors' skills, attitudes, content-related expertise, and approaching the adolescent's grief within their developmental context were deemed essential for building a therapeutic relationship and offering viable support. The findings may inform good practices in counseling bereaved adolescents to facilitate positive mental health outcomes.

Effectiveness of nutritional counseling with overweight pregnant women on child growth at 6 months: A randomized controlled trial.

OBJECTIVE: Studies that have investigated the effect of nutritional counseling during the prenatal period on the follow-up outcomes of children at 6 mo have produced inconclusive results. The present study aimed to investigate the effect of nutritional counseling, based on the NOVA food classification, encouraging the consumption of fresh and minimally processed foods, with overweight adult pregnant women on infant growth at 6 mo of age. METHODS: A randomized controlled trial with 195 pairs of pregnant overweight women and their infants at 6 mo of age was conducted in a Brazilian municipality. The pregnant women were allocated to the control group (CG) or intervention group (IG) at the beginning of the pregnancy. The IG received three sessions of nutrition counseling throughout the pregnancy. Linear regression models were used to investigate the effect of the nutritional counseling on infant growth. RESULTS: One hundred ninety-five mother-infant pairs with complete data were included (96 CG, and 99 IG). The mean ± SD infant weight (g) at 6 mo was 7856.1 ± 1.1, and length (cm) was 67.0 ± 2.9. There were no differences in maternal and newborn characteristics between the groups. In the linear regression models, the counseling had no effect on anthropometric parameters of the infants at 6 mo of age: weight-for-length Z-score (ß 0.089 [95% CI -0.250; 0.427], P = 0.61); length-for-age Z-score (ß 0.032 [95% CI -0.299; 0.363], P = 0.85); weight-for-age Z-score (ß 0.070 [95% CI -0.260; 0.400], P = 0.68); BMI-age Z-score (ß 0.072 [95% CI -0.270; 0.414], P = 0.68). CONCLUSIONS: There was no effect on infant growth at 6 mo of age after the nutritional counseling during pregnancy. Future studies are needed to confirm this hypothesis.

Characteristics and Quality of Online Searches for Direct Anterior Versus Posterior Approach for Total Hip Arthroplasty.

INTRODUCTION: Online resources are important for patient self-education and reflect public interest. We described commonly asked questions regarding the direct anterior versus posterior approach (DAA, PA) to total hip arthroplasty (THA) and the quality of associated websites. METHODS: We extracted the top 200 questions and websites in Google's "People Also Ask" section for eight queries on January 8, 2023, and grouped websites and questions into DAA, PA, or comparison. Questions were categorized using Rothwell's classification (fact, policy, value) and THA-relevant subtopics. Websites were evaluated by information source, Journal of the American Medical Association (JAMA) Benchmark Criteria (credibility), DISCERN survey (information quality), and readability. RESULTS: We included 429 question/website combinations (questions: 52.2% DAA, 21.2% PA, 26.6% comparison; websites: 39.0% DAA, 11.0% PA, 9.6% comparison). Per Rothwell's classification, 56.2% of questions were fact, 31.7% value, 10.0% policy, and 2.1% unrelated. The THA-specific question subtopics differed between DAA and PA (P < 0.001), specifically for recovery timeline (DAA 20.5%, PA 37.4%), indications/management (DAA 13.4%, PA 1.1%), and technical details (DAA 13.8%, PA 5.5%). Information sources differed between DAA (61.7% medical practice/surgeon) and PA websites (44.7% government; P < 0.001). The median JAMA Benchmark score was 1 (limited credibility, interquartile range 1 to 2), with lowest scores for DAA websites (P < 0.001). The median DISCERN score was 55 ("good" quality, interquartile range 43 to 65), with highest scores for comparison websites (P < 0.001). Median Flesch-Kincaid Grade Level scores were 12th grade level for both DAA and PA (P = 0.94). CONCLUSION: Patients' informational interests can guide counseling. Internet searches that explicitly compare THA approaches yielded websites that provide higher-quality information. Providers may also advise patients that physician websites and websites only describing the DAA may have less balanced perspectives, and limited information regarding surgical approaches is available from social media resources.

Pregnancy and the Autoimmune Patient.

PURPOSE OF REVIEW: This article will review the current understanding of the immunologic changes that occur during pregnancy. It will discuss the impact of pregnancy on the disease activity of autoimmune or inflammatory rheumatic diseases (AIRD). Lastly, it will highlight the most recent data on pre-conception and pregnancy management practices that can improve pregnancy outcomes in autoimmune patients. RECENT FINDINGS: Pregnancy is an immunologically complex and dynamic state that may affect the activity of AIRDs, with more patients having active disease during pregnancy than previously thought. Uncontrolled inflammatory diseases are associated with poor pregnancy outcomes such as preeclampsia, small for gestational age infants, and prematurity. Pre-conception counseling and early pregnancy planning discussions can help ensure optimal disease control and medication management prior to attempting conception. Adequate control of AIRDs on pregnancy-compatible medications during the pre-conception, pregnancy, and postpartum periods is required for optimal pregnancy outcomes.

Family Planning Counseling for Women Living with HIV in Low- and Middle-Income Countries: A Systematic Review of the Impact on Contraceptive Uptake, Intention to Use Contraception and Pregnancy Incidence, 2011 to 2022.

Women's ability to control their fertility and have the number of children they want when they want them is an internationally recognized human right. This right has been the driving force behind family planning programs in low- and middle-income countries for more than five decades. The HIV epidemic added greater urgency to those efforts once the risk of vertical transmission of the virus from mothers to their infants was recognized. In 2013, we published a systematic review of the evidence of effectiveness of family planning counseling for women living with HIV, emphasizing HIV related behaviors. In this updated review, we examined 23 studies, primarily from sub-Saharan Africa. The evidence we uncovered reflected efforts to integrate services provided to women. These showed that providing contraceptive services, including intensified counseling and support, in the HIV clinics where women living with HIV received their care increased the likelihood of subsequent use of modern contraception by as much as fourfold. These studies reflected a greater focus on women's family planning decisions and behaviors and less focus on HIV-related behaviors. Among the possible causes of this noted difference we include the widespread coverage of antiretroviral treatment for HIV. This advance has apparently changed the rationale and the approach to integrating family planning and HIV services in ways that may not have been fully appreciated. The results, however, are beneficial: greater coverage of family planning for women who wish to control their fertility and a more equal partnership between family planning services and HIV services in pursuit of the mutual goal of providing integrated services to meet women's needs.

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2.

BACKGROUND: Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying component of high and moderate risk gene pathogenic variants (PVs) than female breast cancer, particularly in BRCA2. However, most studies only report overall detection rates without assessing detailed family history. METHODS: We reviewed germline testing in 204 families including at least one MBC for BRCA1, BRCA2, CHEK2 c.1100DelC and an extended panel in 93 of these families. Individuals had MBC (n=118), female breast cancer (FBC)(n=80), ovarian cancer (n=3) or prostate cancer-(n=3). Prior probability of having a BRCA1/2 PV was assessed using the Manchester Scoring System (MSS). RESULTS: In the 204 families, BRCA2 was the major contributor, with 51 (25%) having PVs, followed by BRCA1 and CHEK2, with five each (2.45%) but no additional PVs identified, including in families with high genetic likelihood on MSS. Detection rates were 85.7% (12/14) in MSS ≥40 and 65.5% with MSS 30-39 but only 12.8% (6/47) for sporadic breast cancer. PV rates were low and divided equally between BRCA1/2 and CHEK2. CONCLUSION: As expected, BRCA2 PVs predominate in MBC families with rates 10-fold those in CHEK2 and BRCA1. The MSS is an effective tool in assessing the likelihood of BRCA1/2 PVs.

Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.

The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor-reported parental questions regarding sex, gender, and sexual orientation. Forty-eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.